{"Name":"Early-infantile DEE","DiseaseID__c":"GARD:0027299","id":27299,"encodedName":"early-infantile-dee","IsDeleted":false,"Disease_Name_Full__c":"Early-infantile DEE","Xref_IDs__c":"230429005; 44423001; C0393706; C116552; C116593; DOID:0050709; DOID:308; MEDGEN:97959; MONDO:0800491","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"Early-infantile DEE","GARD_Synonym__c":"early infantile epileptic encephalopathy; early infantile epileptic encephalopathy with burst-suppression; early infantile epileptic encephalopathy with suppression bursts; early infantile epileptic encephalopathy with suppression-bursts; early myoclonic encephalopathy; early myoclonic encephalopathy with suppression-bursts; early-infantile developmental and epileptic encephalopathy syndrome; eidee; eiee; eme; epileptic encephalopathy, early infantile; epileptic encephalopathy, infantile; infantile epileptic encephalopathy; ohtahara syndrome","Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"A neurological disorder characterized by recurring seizures presenting within the first three months of life, progressive cerebral dysfunction, and an EEG pattern of periods of low electrical brain activity interspersed with bursts of high spiky activity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0800491","ORPHANET_ID__c":"ORPHA:1934","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A neurological disorder characterized by recurring seizures presenting within the first three months of life, progressive cerebral dysfunction, and an EEG pattern of periods of low electrical brain activity interspersed with bursts of high spiky activity.","GARD_Synonym__c":"early infantile epileptic encephalopathy; early infantile epileptic encephalopathy with burst-suppression; early infantile epileptic encephalopathy with suppression bursts; early infantile epileptic encephalopathy with suppression-bursts; early myoclonic encephalopathy; early myoclonic encephalopathy with suppression-bursts; early-infantile developmental and epileptic encephalopathy syndrome; eidee; eiee; eme; epileptic encephalopathy, early infantile; epileptic encephalopathy, infantile; infantile epileptic encephalopathy; ohtahara syndrome","Name":"Early-infantile DEE","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116552","Source__c":"C0393706","Xref__c":"C116552"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050709","Source__c":"MONDO:0800491","Xref__c":"DOID:0050709"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=44423001","Source__c":"MONDO:0800491","Xref__c":"44423001"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230429005","Source__c":"C0393706; MONDO:0800491","Xref__c":"230429005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0393706","Source__c":"C0393706","Xref__c":"C0393706"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A308","Source__c":"MONDO:0800491","Xref__c":"DOID:308"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=97959","Source__c":"C0393706","Xref__c":"MEDGEN:97959"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116593","Source__c":"MONDO:0800491","Xref__c":"C116593"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0800491","Source__c":"GARD:0027299","Xref__c":"MONDO:0800491"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities"],"Account":["Epilepsy"]},"synonyms":["early infantile epileptic encephalopathy"," early infantile epileptic encephalopathy with burst-suppression"," early infantile epileptic encephalopathy with suppression bursts"," early infantile epileptic encephalopathy with suppression-bursts"," early myoclonic encephalopathy"," early myoclonic encephalopathy with suppression-bursts"," early-infantile developmental and epileptic encephalopathy syndrome"," eidee"," eiee"," eme"," epileptic encephalopathy, early infantile"," epileptic encephalopathy, infantile"," infantile epileptic encephalopathy"," ohtahara syndrome"]}